human MBTPS2 Over-expression AAV

Cat. No: AAV-233501

Availability: 3-5 weeks

Name: AAV-h-MBTPS2

This is an AAV expressing Human MBTPS2.

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Viral Backbone: Recombinant AAV
AAV-ITR: AAV2
AAV Serotype: Available in AAV1, AAV2, AAV3, AAV5, AAV6, AAV8, AAV9, AAV-DJ, AAV-DJ8, AAV-DJ9 and other wildtype/synthetic AAV capsids
Promoter: CMV (default), or choose from 30 different ubiquitous or cell specific promoter
Reporter: none, optional GFP, CFP, YFP, RFP or mCherry
Storage Buffer: PBS/5% Glycerol

Species: Human
Gene Symbol: MBTPS2
Gene Name: membrane bound transcription factor peptidase, site 2
Gene ID: 51360
Gene Synonyms: BRESEK; IFAP; KFSD; KFSDX; OLMSX; S2P
ORF Size: 1560 bp
RefSeq#: BC036465
Gene Description: MBTPS2 encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.
HGNC ID: HGNC:15455